Skip to main content

Nerve and Muscle Biopsies

  • Chapter
  • First Online:
Book cover Neuromuscular Disorders in Clinical Practice

Abstract

Muscle biopsies are essential in the diagnosis of primary diseases of muscle. Nerve biopsies, while less commonly employed for diagnosis, remain essential in specific cases. Proper technique in preparation of the specimen and an understanding of the clinical picture is essential in interpretation of the biopsy. This chapter provides an introduction to techniques for muscle and nerve biopsy preparation and examination. The microanatomy and appearance of normal muscle and nerve are presented. The findings present in axonal and demyelinating neuropathies, and specific nerve and muscle diseases are discussed.

This is a preview of subscription content, log in via an institution to check access.

Access this chapter

Chapter
USD 29.95
Price excludes VAT (USA)
  • Available as PDF
  • Read on any device
  • Instant download
  • Own it forever
eBook
USD 229.00
Price excludes VAT (USA)
  • Available as EPUB and PDF
  • Read on any device
  • Instant download
  • Own it forever
Softcover Book
USD 299.99
Price excludes VAT (USA)
  • Compact, lightweight edition
  • Dispatched in 3 to 5 business days
  • Free shipping worldwide - see info
Hardcover Book
USD 449.99
Price excludes VAT (USA)
  • Durable hardcover edition
  • Dispatched in 3 to 5 business days
  • Free shipping worldwide - see info

Tax calculation will be finalised at checkout

Purchases are for personal use only

Institutional subscriptions

References

  1. Miles JD, Cohen ML. Skeletal muscle and peripheral nerve disorders. In: Prayson RA, editor. Neuropathology. 2nd ed. Philadelphia: Elsevier; 2011. p. 561–612.

    Google Scholar 

  2. Vallat J, Funalot B, Magy L. Nerve biopsy: requirements for diagnosis and clinical value. Acta Neuropathol. 2011;121:313–26.

    Article  PubMed  Google Scholar 

  3. Sommer CL, Brandner S, Dyck PJ, et al. Peripheral Nerve Society Guideline on processing and evaluation of nerve biopsies. J Peripher Nerv Syst. 2010;15(3):164–75.

    Article  PubMed  Google Scholar 

  4. King RHM. Atlas of peripheral nerve pathology. London: Arnold; 1999.

    Google Scholar 

  5. Anthony DC. Peripheral nerve biopsies. Arch Pathol Lab Med. 1996;120:26–34.

    PubMed  CAS  Google Scholar 

  6. Midroni G, Bilbao JM. Biopsy diagnosis of peripheral neuropathy. Boston: Butterworth-Heinemann; 1995.

    Google Scholar 

  7. Richardson Jr EP, De Girolami U. Pathology of the peripheral nerve. Philadelphia: Saunders; 1995.

    Google Scholar 

  8. Dyck PJ, Thomas PK, editors. Peripheral neuropathy. 4th ed. Philadelphia: Saunders; 2005.

    Google Scholar 

  9. Bouche P, Vallat J-M. Neuropathies périphériques. Paris: Doin; 1992.

    Google Scholar 

  10. Ouvrier R, McLeod JG, Pollard J. Peripheral neuropathy in childhood. 2nd ed. New York: Raven; 1999.

    Google Scholar 

  11. Vital C, Vallat J-M. Ultrastructural study of the human diseased peripheral nerve. New York: Elsevier; 1987.

    Google Scholar 

  12. Schochet SSJ. Diagnostic pathology of skeletal muscle and nerve. East Norwalk: Appleton; 1986.

    Google Scholar 

  13. Asbury AK, Johnson PC. Pathology of peripheral nerve. Philadelphia: W.B. Saunders; 1978.

    Google Scholar 

  14. Ropper AH, Brown RH. Adams and Victor’s principles of ­neurology. 8th ed. New York: McGraw-Hill; 2005.

    Google Scholar 

  15. Dyck PJ, Dyck PJB, Grant IA, et al. Ten steps in characterizing and diagnosing patients with peripheral neuropathy. Neurology. 1996;47:10–7.

    Article  PubMed  CAS  Google Scholar 

  16. Li K, Kyle RA, Dyck PJ. Immunohistochemical characterization of amyloid proteins in sural nerves and clinical associations in amyloid neuropathy. Am J Pathol. 1992;141:217–26.

    PubMed  CAS  Google Scholar 

  17. Thomas PK, Harding AE. Inherited neuropathies: the interface between molecular genetics and pathology. Brain Pathol. 1993;3:129–33.

    Article  PubMed  CAS  Google Scholar 

  18. Panegyres PK, Blumbergs PC, Leong AS, et al. Vasculitis of peripheral nerve and skeletal muscle: clinicopathological correlation and immunopathic mechanisms. J Neurol Sci. 1990;100:193–202.

    Article  PubMed  CAS  Google Scholar 

  19. Hawke SHB, Davies L, Pamphlett R, et al. Vasculitic neuropathy. A clinical and pathological study. Brain. 1991;114:2175–90.

    Article  PubMed  Google Scholar 

  20. Tomii M, Onoue H, Yasue M, Tokudome S, Abe T. Microscopic measurement of the facial nerve root exit zone from central glial myelin to peripheral Schwann cell myelin. J Neurosurg. 2003;99:121–4.

    Article  PubMed  Google Scholar 

  21. Sloniewski P, Korejwo G, Zielinski P, Morys J, Krzyzanowski M. Measurements of the Obersteiner-Redlich zone of the vagus nerve and their possible clinical applications. Folia Morphol (Warsz). 1999;58:37–41.

    CAS  Google Scholar 

  22. Sunderland S. The connective tissues of peripheral nerves. Brain. 1965;88:841–53.

    Article  PubMed  CAS  Google Scholar 

  23. Ochoa J, Mair WG. The normal sural nerve of man. Acta Neuropathol. 1969;13:197–216.

    Article  PubMed  CAS  Google Scholar 

  24. Johnson PC, Beggs JL, Olafsen AG, et al. Unmyelinated nerve fiber estimation by immunocytochemistry. Correlation with electron microscopy. J Neuropathol Exp Neurol. 1994;53:176–83.

    Article  PubMed  CAS  Google Scholar 

  25. Usson Y, Torch S, Saxod R. Morphometry of human nerve biopsies by means of automated cytometry: assessment with reference to ultrastructural analysis. Anal Cell Pathol. 1991;3(2):91–102.

    PubMed  CAS  Google Scholar 

  26. Behse F. Morphometric studies on the human sural nerve. Acta Neurol Scand. 1990;132(Suppl):1–38.

    CAS  Google Scholar 

  27. Gibbels E. Morphometry of unmyelinated nerve fibers. Clin Neuropathol. 1989;8:179–87.

    PubMed  CAS  Google Scholar 

  28. Ouvrier RA, McLeod JG, Conchin T. Morphometric studies of sural nerve in childhood. Muscle Nerve. 1987;10:47–53.

    Article  PubMed  CAS  Google Scholar 

  29. Ferriere G, Denef J-F, Rodriguez J, et al. Morphometric studies of normal sural nerves in children. Muscle Nerve. 1985;8:697–704.

    Article  PubMed  CAS  Google Scholar 

  30. Jacobs JM, Love S. Qualitative and quantitative morphology of human sural nerve at different ages. Brain. 1985;108:897–924.

    Article  PubMed  Google Scholar 

  31. Dyck PJ, Karnes J, Sparks M, et al. The morphometric composition of myelinated fibers by nerve, level, and species related to nerve microenvironment and ischaemia. Electroencephalogr Clin Neurophysiol Suppl. 1982;36:39–55.

    PubMed  CAS  Google Scholar 

  32. Dyck PJ, Lambert EH. Numbers and diameters of nerve fibers and compound action potentials of sural nerves: controls and hereditary neuromuscular disorders. Trans Am Neurol Assoc. 1966;91:214–7.

    Google Scholar 

  33. Asbury AK. Renaut bodies: a forgotten endoneurial structure. J Neuropathol Exp Neurol. 1973;32:334–44.

    Article  PubMed  CAS  Google Scholar 

  34. Bernsen RA, Busard HL, Ter Laak HJ, et al. Polyglucosan bodies in intramuscular motor nerves. Acta Neuropathol. 1989;77:629–33.

    Article  PubMed  CAS  Google Scholar 

  35. De Girolami U, Anthony DC, Frosch MP. Peripheral nerve and skeletal muscle. In: Cotran RS, Kumar V, Collins T, editors. Robbins pathologic basis of disease. Philadelphia: WB Saunders; 1999. p. 1269–91.

    Google Scholar 

  36. Waller A. Experiments on the section of the glossopharyngeal and hypoglossal nerves of the frog and observations of the alterations produced thereby in the structure of their primitive fibers. Philos Trans R Soc Lond (Biol). 1850;140:423–9.

    Article  Google Scholar 

  37. Büngner O. Ueber die Degeneration- und Regenerationsvorgänge am Nerven nach Verletzungen. Arb a d patholog Inst Marburg. 1891;3:165–237.

    Google Scholar 

  38. Brück W. The role of macrophages in Wallerian degeneration. Brain Pathol. 1997;7:741–52.

    Article  PubMed  Google Scholar 

  39. Gombault M. Contribution à l’étude anatomique de la névrite parenchymateuse subaiguë et chronique – Névrite segmentaire péri-axile. Arch de Neurol (Paris). 1880–1881;1:11–38, 177–90.

    Google Scholar 

  40. Meyer P. Anatomische Untersuchungen über diphtheritische Lähmung. Arch Pathol Anat Physiol Klin Med. 1881;85:181–226.

    Google Scholar 

  41. Webster HD, Schröder JM, Asbury AK, et al. The role of Schwann cells in the formation of “onion bulbs” found in chronic neuropathies. J Neuropathol Exp Neurol. 1967;26:276–99.

    Article  PubMed  CAS  Google Scholar 

  42. Reilly MM, Murphy SM, Laurá M. Charcot-Marie-Tooth disease. J Peripher Nerv Syst. 2011;16:1–14.

    Article  PubMed  Google Scholar 

  43. Pareyson D. Charcot-Marie-Tooth disease and related neuropathies: molecular basis for distinction and diagnosis. Muscle Nerve. 1999;22:1498–509.

    Article  PubMed  CAS  Google Scholar 

  44. Rautenstrauss G, Fuchs C, Liehr T, et al. Visualization of the CMT 1A and HNPP deletion by FISH on stretched chromosome fibers. J Peripher Nerv Syst. 1997;2:319–22.

    PubMed  CAS  Google Scholar 

  45. Planté-Bodeneuve V, Said G. Familial amyloid polyneuropathy. Lancet Neurol. 2011;10:1086–97.

    Article  Google Scholar 

  46. Washington University, St. Louis, MO USA. Neuromuscular Disease Center. Available at: http://neuromuscular.wustl.edu/. Accessed 27 Feb 2012.

  47. Dubowitz V, Sewry CA. Muscle biopsy: a modern approach. 3rd ed. Philadelphia: Elsevier; 2007.

    Google Scholar 

  48. Karpati G, Hilton-Jones D, Bushby K, Griggs RC, editors. Disorders of voluntary muscle. 8th ed. Cambridge/New York: Cambridge University Press; 2010.

    Google Scholar 

  49. Laing NG, editor. The sarcomere and skeletal muscle disease (advances in experimental medicine and biology). New York: Springer; 2008.

    Google Scholar 

  50. Griggs RC, Amato AA, editors. Muscular dystrophies: Handbook of clinical neurology. Vol 101 (Series editors: Michael J. Aminoff, François Boller, Dick F. Swaab). Amsterdam, The Netherlands: Elsevier; 2011.

    Google Scholar 

  51. Lai CH, Melli G, Chang YJ, Skolasky RL, Corse AM, Wagner KR, et al. Open muscle biopsy in suspected myopathy: diagnostic yield and clinical utility. Eur J Neurol. 2010;17:136–42.

    Article  PubMed  Google Scholar 

  52. Vogel H, Zamecnik J. Diagnostic immunohistology of muscle diseases. J Neuropathol Exp Neurol. 2005;64:181–93.

    PubMed  CAS  Google Scholar 

  53. Capkovic KL, Stevenson S, Johnson MC, Thelen JJ, Cornelison DD. Neural cell adhesion molecule (NCAM) marks adult myogenic cells committed to differentiation. Exp Cell Res. 2008;314:1553–65.

    Article  PubMed  CAS  Google Scholar 

  54. Raheem O, Huovinen S, Suominen T, Haapasalo H, Udd B. Novel myosin heavy chain immunohistochemical double staining developed for the routine diagnostic separation of I, IIA and IIX fibers. Acta Neuropathol. 2010;119:495–500.

    Article  PubMed  CAS  Google Scholar 

  55. Winter A, Bornemann A. NCAM, vimentin and neonatal myosin heavy chain expression in human muscle diseases. Neuropathol Appl Neurobiol. 1999;25:417–24.

    Article  PubMed  CAS  Google Scholar 

  56. D’Agostino C, Nogalska A, Engel WK, Askanas V. In sporadic inclusion body myositis muscle fibers TDP-43-positive inclusions are less frequent and robust than p62 inclusions, and are not associated with paired helical filaments. Neuropathol Appl Neurobiol. 2011;37:315–20.

    Article  PubMed  Google Scholar 

  57. Mackey AL, Kjaer M, Charifi N, et al. Assessment of satellite cell number and activity status in human skeletal muscle biopsies. Muscle Nerve. 2009;40:455–65.

    Article  PubMed  Google Scholar 

  58. Gundersen K. Excitation-transcription coupling in skeletal muscle: the molecular pathways of exercise. Biol Rev Camb Philos Soc. 2011;86:564–600.

    Article  PubMed  Google Scholar 

  59. Kaplan JC. The 2012 version of the gene table of monogenic ­neuromuscular disorders. Neuromuscul Disord. 2011;21:833–61.

    Article  PubMed  Google Scholar 

  60. Jungbluth H, Sewry CA, Muntoni F. Core myopathies. Semin Pediatr Neurol. 2011;18:239–49.

    Article  PubMed  Google Scholar 

  61. Wallgren-Pettersson C, Sewry CA, Nowak KJ, Laing NG. Nemaline myopathies. Semin Pediatr Neurol. 2011;18:230–8.

    Article  PubMed  Google Scholar 

  62. Selcen D. Myofibrillar myopathies. Neuromuscul Disord. 2011;21:161–71.

    Article  PubMed  Google Scholar 

  63. Udd B. Distal myopathies - new genetic entities expand diagnostic challenge. Neuromuscul Disord. 2012;22:5–12.

    Article  PubMed  Google Scholar 

  64. Cohn RD, Campbell KP. Molecular basis of muscular dystrophies. Muscle Nerve. 2000;23:1456–71.

    Article  PubMed  CAS  Google Scholar 

  65. Abbs S, Tuffery-Giraud S, Bakker E, Ferlini A, Sejersen T, Mueller CR. Best practice guidelines on molecular diagnostics in Duchenne/Becker muscular dystrophies. Neuromuscul Disord. 2010;20:422–7.

    Article  PubMed  Google Scholar 

  66. Nigro V, Aurino S, Piluso G. Limb girdle muscular dystrophies: update on genetic diagnosis and therapeutic approaches. Curr Opin Neurol. 2011;24:429–36.

    Article  PubMed  CAS  Google Scholar 

  67. Carmignac V, Durbeej M. Cell-matrix interactions in muscle ­disease. J Pathol. 2012;226:200–18.

    Article  PubMed  CAS  Google Scholar 

  68. Nageotte J. Sur la contraction extrême des muscles squelettiques chez les vertébrés. Z Zellforsch Mikrosk Anat. 1937;26:603–24.

    Article  Google Scholar 

  69. Denny-Brown D. Experimental studies pertaining to hypertrophy, degeneration and regenration. Res Pub Assoc Res Nerv Ment Dis. 1960;38:147–96.

    Google Scholar 

Download references

Author information

Authors and Affiliations

Authors

Corresponding author

Correspondence to J. Douglas Miles MD, PhD .

Editor information

Editors and Affiliations

Rights and permissions

Reprints and permissions

Copyright information

© 2014 Springer Science+Business Media New York

About this chapter

Cite this chapter

Miles, J.D., Cohen, M.L. (2014). Nerve and Muscle Biopsies. In: Katirji, B., Kaminski, H., Ruff, R. (eds) Neuromuscular Disorders in Clinical Practice. Springer, New York, NY. https://doi.org/10.1007/978-1-4614-6567-6_12

Download citation

  • DOI: https://doi.org/10.1007/978-1-4614-6567-6_12

  • Published:

  • Publisher Name: Springer, New York, NY

  • Print ISBN: 978-1-4614-6566-9

  • Online ISBN: 978-1-4614-6567-6

  • eBook Packages: MedicineMedicine (R0)

Publish with us

Policies and ethics